(Q56241335)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1960616%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

title

Hepatic failure in disorders of oxidative phosphorylation with neonatal onset (English)

1 reference

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21 September 2019

0 references

Valérie Cormier-Daire

1

1 reference

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21 September 2019

Jean-Paul Bonnefont

3

1 reference

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21 September 2019

author name string

P Rustin

2

1 reference

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21 September 2019

C Rambaud

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1960616%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

A Vassault

5

1 reference

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21 September 2019

D Rabier

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1960616%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

P Parvy

7

1 reference

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21 September 2019

S Couderc

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1960616%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

F Parrot-Roulaud

9

1 reference

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21 September 2019

M Carré

10

1 reference

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21 September 2019

language of work or name

English

0 references

publication date

1 December 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1960616%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

21 September 2019

published in

1 reference

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21 September 2019

volume

119

1 reference

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21 September 2019

issue

6

1 reference

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21 September 2019

page(s)

951-954

1 reference

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Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin.

21 September 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983054-9

The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983054-9

Mitochondrial DNA mutations and neuromuscular disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983054-9

Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983054-9

Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983054-9

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983054-9

Widespread multitissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983054-9

10.1016/S0022-3476(05)83054-9

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1960616%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

1 reference